Mutagenetix > Incidental Mutations

Incidental Mutation 'R5934:D1Ertd622e'

462065

Institutional Source

Beutler Lab

Gene Symbol

D1Ertd622e

Ensembl Gene

ENSMUSG00000044768

Gene Name

DNA segment, Chr 1, ERATO Doi 622, expressed

Synonyms

MMRRC Submission

044128-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R5934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97606318-97662074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97645930 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 137 (C137S)

Ref Sequence

ENSEMBL: ENSMUSP00000138031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053033] [ENSMUST00000142234] [ENSMUST00000149927] [ENSMUST00000153115]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053033
AA Change: C137S

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
AA Change: C137S

Domain	Start	End	E-Value	Type
Pfam:UNC119_bdg	3	201	2.3e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142234

SMART Domains

Protein: ENSMUSP00000137803
Gene: ENSMUSG00000044768

Domain	Start	End	E-Value	Type
Pfam:UNC119_bdg	3	134	1.1e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149927
AA Change: C137S

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
AA Change: C137S

Domain	Start	End	E-Value	Type
Pfam:UNC119_bdg	3	201	8.7e-116	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153115
AA Change: C137S

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138031
Gene: ENSMUSG00000044768
AA Change: C137S

Domain	Start	End	E-Value	Type
Pfam:UNC119_bdg	3	201	2.3e-119	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,930,806	V596A	probably benign	Het
Acot11	C	T	4: 106,760,130	G240R	probably damaging	Het
Afg1l	G	A	10: 42,318,686	T370M	probably damaging	Het
Aldh2	T	C	5: 121,579,615	T118A	probably benign	Het
Apcdd1	C	T	18: 62,951,869	A379V	possibly damaging	Het
Atp1a3	T	C	7: 24,978,874		probably benign	Het
Cd96	G	T	16: 46,117,903	D66E	probably benign	Het
Cdh5	T	A	8: 104,138,268	V506E	probably benign	Het
Cep70	T	C	9: 99,254,265	I7T	probably benign	Het
Ckb	A	T	12: 111,670,229	V237D	probably damaging	Het
Col6a6	C	T	9: 105,767,075	D1306N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Ddhd2	A	G	8: 25,753,113	S19P	probably damaging	Het
Dnah17	G	T	11: 118,041,102	D3681E	probably benign	Het
Dopey1	T	A	9: 86,542,442	Y2068*	probably null	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Fryl	T	C	5: 73,090,717	Y1019C	probably damaging	Het
Fsip2	G	A	2: 82,986,748	C4275Y	possibly damaging	Het
Gapdh	A	G	6: 125,162,701	V202A	probably damaging	Het
Gm8394	T	C	10: 85,314,281		noncoding transcript	Het
Gmeb2	T	C	2: 181,255,574	I250M	possibly damaging	Het
Gpr88	C	T	3: 116,252,309	G118R	probably damaging	Het
Hdhd3	C	A	4: 62,499,370	V190L	possibly damaging	Het
Heg1	C	T	16: 33,726,919	T461M	probably damaging	Het
Hspg2	A	G	4: 137,518,772	Y989C	probably damaging	Het
Ift74	A	T	4: 94,632,734	M175L	probably benign	Het
Kcnh3	G	A	15: 99,226,533	R101Q	possibly damaging	Het
Kif20b	G	T	19: 34,941,321	V702F	probably benign	Het
Klhl1	A	G	14: 96,123,215		probably null	Het
Lrrk2	T	C	15: 91,734,046	V916A	probably benign	Het
Mpp4	A	T	1: 59,121,376	D589E	probably damaging	Het
Msl2	T	C	9: 101,101,818	C464R	probably damaging	Het
Mucl2	A	T	15: 103,897,566	S42T	probably benign	Het
Musk	T	A	4: 58,373,613	L838Q	probably damaging	Het
Nos1	A	G	5: 117,936,445	H1052R	probably damaging	Het
Olfr1151	T	C	2: 87,857,241	V22A	probably benign	Het
Olfr1420	A	G	19: 11,896,929	R303G	probably benign	Het
Olfr352	T	A	2: 36,870,268	I234N	probably benign	Het
Olfr463	T	C	11: 87,893,223	R234G	possibly damaging	Het
Olfr52	T	A	2: 86,182,102	Q3L	probably benign	Het
Olfr521	A	T	7: 99,767,389	I76F	probably damaging	Het
Olfr672	C	A	7: 104,996,178	C242F	probably damaging	Het
Olfr683	G	A	7: 105,143,660	S211F	probably benign	Het
Olfr960	C	T	9: 39,623,183	T20I	probably damaging	Het
Pard3	T	G	8: 127,389,338	L636R	probably damaging	Het
Pigr	A	T	1: 130,844,527	S161C	probably damaging	Het
Polr1e	T	C	4: 45,029,369	S325P	probably damaging	Het
Prrc2a	A	T	17: 35,150,084	V1992E	probably damaging	Het
Ptpdc1	T	C	13: 48,586,369	K468E	probably benign	Het
Rab22a	A	G	2: 173,661,504	T37A	probably damaging	Het
Rai14	T	A	15: 10,575,159	K571I	probably damaging	Het
Reck	G	A	4: 43,930,979	G660D	probably damaging	Het
Rgs4	T	C	1: 169,745,238	D43G	possibly damaging	Het
Ryr2	A	T	13: 11,584,154	D4645E	probably damaging	Het
Sf3b3	A	G	8: 110,823,470	S639P	probably damaging	Het
Slc27a4	G	T	2: 29,811,660	R430L	probably damaging	Het
Slfn1	T	A	11: 83,121,944	Y295*	probably null	Het
Slfn5	C	T	11: 82,956,592	S101L	probably damaging	Het
Sult1d1	CCATG	CCATGGCATG	5: 87,559,770		probably null	Het
Tchh	A	T	3: 93,444,112	Q286H	unknown	Het
Tmem184c	A	T	8: 77,604,723	Y172*	probably null	Het
Tsc22d1	T	G	14: 76,418,826	M833R	possibly damaging	Het
Ugt1a7c	G	T	1: 88,095,879	L253F	probably damaging	Het
Usp19	C	T	9: 108,492,567		probably benign	Het
Xirp2	T	A	2: 67,524,804	I3303K	possibly damaging	Het
Zfp574	G	A	7: 25,080,332	A260T	probably benign	Het
Zswim6	A	G	13: 107,744,107		noncoding transcript	Het

Other mutations in D1Ertd622e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:D1Ertd622e	APN	1	97646006	missense	probably damaging	0.99
IGL02349:D1Ertd622e	APN	1	97646052	missense	probably damaging	1.00
R0577:D1Ertd622e	UTSW	1	97661826	splice site	probably null
R1646:D1Ertd622e	UTSW	1	97645806	missense	probably damaging	0.99
R3611:D1Ertd622e	UTSW	1	97646334	missense	probably damaging	1.00
R5270:D1Ertd622e	UTSW	1	97645995	missense	probably damaging	1.00
R6863:D1Ertd622e	UTSW	1	97646305	missense	probably benign
R7133:D1Ertd622e	UTSW	1	97645920	missense	probably benign	0.01
R7911:D1Ertd622e	UTSW	1	97645890	missense	probably damaging	0.98
R7992:D1Ertd622e	UTSW	1	97645890	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTTCTAGCAAACACTCGGTC -3'
(R):5'- GTTAGCCCAGAAGTGCACAG -3'

Sequencing Primer
(F):5'- AAACACTCGGTCCCCTCGG -3'
(R):5'- CCCAGAAGTGCACAGGAGGG -3'

Posted On

2017-02-28